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Article

Cardiomyopathy associated with the Ala143Thr variant of the α-galactosidase A gene.

Heart (British Cardiac Society) - 1 Apr 2020

Valtola Kati, Nino-Quintero Juanita, Hedman Marja, Lottonen-Raikaslehto Line, Laitinen Tomi, Maria Maleeha, Kantola Ilkka, Naukkarinen Anita, Laakso Markku, Kuusisto Johanna

Abstract excerpt

OBJECTIVE: To investigate whether the Ala143Thr variant of the α-galactosidase A gene (A143T/GLA), with conflicting interpretations of pathogenicity, is associated with Fabry cardiomyopathy. METHODS: The index patient, a woman in her 60s with cardiomyopathy, was screened for variants in 59 cardiomyopathy-related genes. A143T/GLA, the only rare variant found, was screened in 10 relatives. GLA activity and lyso-Gb3...

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Identifiers

PMID: 31949022
DOI: 10.1136/heartjnl-2019-315933
PMCID: PMC7146944

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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